検索結果 - Elise Brimble

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  1. 1
    4-Phenylbutyrate Inhibits Tunicamycin-Induced Acute Kidney Injury via CHOP/GADD153 Repression

    4-Phenylbutyrate Inhibits Tunicamycin-Induced Acute Kidney Injury via CHOP/GADD153 Repression 著者: Rachel E. Carlisle, Elise Brimble, Kaitlyn E. Werner, Gaile L. Cruz, Kjetil Ask, Alistair J. Ingram, Jeffrey G. Dickhout

    出版事項 2014
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    Artigo
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  2. 2
    Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome

    Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome 著者: Shahryar Khattak, Elise Brimble, Wenbo Zhang, Kirill Zaslavsky, Emma Strong, P. Joel Ross, Jason A. Hendry, Seema Mital, Michael W. Salter, Lucy R. Osborne, James Ellis

    出版事項 2015
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  3. 3
    Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility

    Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility 著者: Kate E. McCluskey, Katherine M. Stovell, Karen Law, Elina Kostyanovskaya, James J. Schmidt, Cameron R. T. Exner, Jeanselle Dea, Elise Brimble, Matthew W. State, A. Jeremy Willsey, Helen Rankin Willsey

    出版事項 2025
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  4. 4
    The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome

    The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome 著者: Shin Teo Jeon, Jaein Park, Ji Hwan Moon, Dongjun Shin, Liwen Li, Holly O’Shea, Seon‐Ung Hwang, HJ Lee, Elise Brimble, Jae W. Lee, Stewart D. Clark, Soo‐Kyung Lee

    出版事項 2025
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  5. 5
    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder 著者: Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A.C. Goos, Olajumoke Adeniji-Popoola, María Jesús Ortiz-Ruiz, Tina Barbaro‐Dieber, Lucy Bownass, Eva H. Brilstra, Elise Brimble, Nicola Foulds, Theresa A. Grebe, Aster V. E. Harder, Melissa Lees, Kristin G. Monaghan, Ruth Newbury‐Ecob, Kai‐Ren Ong, Deborah Osio, Francis Jeshira Reynoso Santos, Maura Ruzhnikov, Aida Telegrafi, Ellen van Binsbergen, Marieke F. van Dooren, Peter J. van der Spek, Julian Blagg, Stephen R.F. Twigg, Irene M.J. Mathijssen, Paul A. Clarke, Andrew O.M. Wilkie

    出版事項 2019
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    Artigo
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  6. 6
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders 著者: Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

    出版事項 2018
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    Artigo
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  7. 7
    PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

    PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights 著者: Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac, Nicole I. Wolf, Autumn S. Ivy, Scott Demarest, Yann Roussel, Jolita Čiapaitė, Carlo W.T. van Roermund, Kristin D. Kernohan, Ceres Kosuta, Kevin Ban, Yoko Itō, Skye McBride, Khalid Al‐Thihli, Rana Abdelrahim, Roshan Koul, Amna Al‐Futaisi, Charlotte A. Haaxma, Heather E. Olson, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, M. E. Boon, M. Rebecca Heiner‐Fokkema, Sandra Noble, Marjolein Bosma, Judith Jans, David A. Koolen, Erik-Jan Kamsteeg, Britt I. Drögemöller, Colin J.D. Ross, Jacek Majewski, Megan T. Cho, Amber Begtrup, Wyeth W. Wasserman, Tuan V. Bui, Elise Brimble, Sara Violante, Sander M. Houten, Ron A. Wevers, Martijn van Faassen, Ido P. Kema, Nathalie Lepage, Matthew A. Lines, David A. Dyment, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Marc Ekker, Kym M. Boycott, Jan M. Friedman, Izabella A. Pena, Clara D.M. van Karnebeek

    出版事項 2018
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  8. 8
    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function 著者: Gillian Rice, Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck, Luís Seabra, Christophe Barrea, Roberta Battini, Alexandre Bélot, Stefan Berg, Thierry Billette de Villemeur, Annette Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darín, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Héron, Delphine Héron, D. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Martí, Cyril Mignot, Fanny Mochel, Marie‐Christine Nouguès, Ilena Oppermann, Belén Pérez‐Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, C. M. SHARPE, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomás Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline Vanderver, Sun Hur, Yanick J. Crow

    出版事項 2020
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  9. 9
    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients 著者: Laura Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael March, Divya Nair, Elliott H. Sherr, Brieana Fregeau, Klaas J. Wierenga, Alexandrea Wadley, Grazia M.S. Mancini, Nina Powell‐Hamilton, Jiddeke van de Kamp, Theresa A. Grebe, John Dean, Alison Ross, Heather P. Crawford, Zöe Powis, Megan T. Cho, Marcia Willing, Linda Manwaring, Rachel Schot, Caroline Nava, Alexandra Afenjar, Davor Lessel, Matias Wagner, Thomas Klopstock, Juliane Winkelmann, Claudia B. Catarino, Kyle Retterer, Jane L. Schuette, Jeffrey W. Innis, Amy Pizzino, Sabine Lüttgen, Jonas Denecke, Tim M. Strom, Kristin G. Monaghan, Zuo‐Fei Yuan, Holly Dubbs, Renee Bend, Jennifer A. Lee, Michael J. Lyons, Julia Hoefele, Roman Günthner, Heiko Reutter, Boris Keren, Kelly Radtke, Omar Sherbini, Cameron Mrokse, Katherine L. Helbig, Sylvie Odent, Benjamin Cogné, Sandra Mercier, Stéphane Bézieau, Thomas Besnard, Sébastien Küry, Richard Redon, Karit Reinson, Monica H. Wojcik, Katrin Õunap, Pilvi Ilves, A. Micheil Innes, Kristin D. Kernohan, Gregory Costain, M. Stephen Meyn, David Chitayat, Elaine H. Zackai, Anna Lehman, Hilary Kitson, Martin G. Martin, Julián A. Martínez-Agosto, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Janet S. Sinsheimer, Éric Vilain, Jijun Wan, Amanda J. Yoon, Allison Zheng, Elise Brimble, Giovanni Battista Ferrero, Francesca Clementina Radio, Diana Carli, Sabina Barresi, Alfredo Brusco, Marco Tartaglia, Jennifer Muncy Thomas, Luis A. Umaña, Marjan M. Weiss, Garrett Gotway, Kyra E. Stuurman, Michelle L. Thompson, Kirsty McWalter, Constance T. R. M. Stumpel, Servi J.C. Stevens

    出版事項 2020
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